Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225332
rs863225332
APC
2 1.000 0.120 5 112838397 stop gained -/A delins 0.700 1.000 10 1992 2017
dbSNP: rs137854577
rs137854577
APC
3 0.925 0.120 5 112780901 stop gained C/T snv 0.700 1.000 2 1992 2017
dbSNP: rs1326410920
rs1326410920
APC
1 1.000 0.120 5 112801351 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs387906234
rs387906234
APC
7 0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins 0.700 1.000 11 1992 2016
dbSNP: rs876660130
rs876660130
APC
2 1.000 0.120 5 112837593 stop gained C/T snv 0.700 1.000 10 1992 2016
dbSNP: rs137854580
rs137854580
APC
4 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.700 1.000 9 1993 2016
dbSNP: rs121913332
rs121913332
APC
4 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.700 1.000 8 1993 2016
dbSNP: rs137854573
rs137854573
APC
8 0.807 0.120 5 112828889 stop gained C/T snv 0.700 1.000 8 1992 2016
dbSNP: rs1554085081
rs1554085081
APC
1 1.000 0.120 5 112839117 stop gained C/T snv 0.700 1.000 7 1992 2016
dbSNP: rs137854574
rs137854574
APC
2 0.925 0.120 5 112828919 stop gained C/T snv 0.700 1.000 6 1992 2016
dbSNP: rs1554084848
rs1554084848
APC
2 1.000 0.120 5 112838797 stop gained C/A;G snv 0.700 1.000 6 1998 2016
dbSNP: rs587781392
rs587781392
APC
7 0.827 0.120 5 112780895 stop gained C/G;T snv 0.700 1.000 6 1992 2016
dbSNP: rs786203020
rs786203020
APC
2 1.000 0.120 5 112839062 frameshift variant GAGA/-;GA;GAGAGA delins 0.700 1.000 6 1992 2016
dbSNP: rs1114167580
rs1114167580
APC
2 1.000 0.120 5 112835164 missense variant A/C;G snv 0.700 1.000 5 2004 2016
dbSNP: rs1131691143
rs1131691143
APC
3 0.925 0.120 5 112838394 frameshift variant TTAC/- delins 0.700 1.000 4 1997 2016
dbSNP: rs1554087036
rs1554087036
APC
1 1.000 0.120 5 112841454 frameshift variant TTTG/- del 0.700 1.000 4 1998 2016
dbSNP: rs1561602876
rs1561602876
APC
1 1.000 0.120 5 112841413 frameshift variant -/A delins 0.700 1.000 4 1998 2016
dbSNP: rs376213437
rs376213437
APC
3 0.925 0.120 5 112767256 stop gained T/A;C;G snv 4.0E-06; 4.0E-05 0.700 1.000 4 2010 2016
dbSNP: rs1554084454
rs1554084454
APC
1 1.000 0.120 5 112838384 frameshift variant AC/GTGT delins 0.700 1.000 3 1998 2016
dbSNP: rs1561585111
rs1561585111
APC
1 1.000 0.120 5 112839079 frameshift variant GCATA/- delins 0.700 1.000 3 1998 2016
dbSNP: rs1561585641
rs1561585641
APC
1 1.000 0.120 5 112839143 stop gained T/G snv 0.700 1.000 3 1998 2016
dbSNP: rs587781330
rs587781330
APC
3 0.925 0.120 5 112841528 frameshift variant ACAA/- delins 0.700 1.000 3 1998 2016
dbSNP: rs587781694
rs587781694
APC
3 0.925 0.120 5 112766335 frameshift variant ACAA/- delins 0.700 1.000 3 2009 2016
dbSNP: rs587782303
rs587782303
APC
2 1.000 0.120 5 112837598 frameshift variant C/- del 0.700 1.000 3 2010 2016
dbSNP: rs879253783
rs879253783
APC
1 1.000 0.120 5 112707527 5 prime UTR variant T/C snv 0.700 1.000 2 2016 2016